ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.3167A>G (p.Asn1056Ser)

gnomAD frequency: 0.00002  dbSNP: rs767308840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001055539 SCV001219937 uncertain significance Hereditary sensory neuropathy-deafness-dementia syndrome 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 1056 of the DNMT1 protein (p.Asn1056Ser). This variant is present in population databases (rs767308840, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with DNMT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 851195). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DNMT1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002497425 SCV002784676 uncertain significance Autosomal dominant cerebellar ataxia, deafness and narcolepsy; Hereditary sensory neuropathy-deafness-dementia syndrome 2021-10-26 criteria provided, single submitter clinical testing

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